Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2492
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol FSHR   Gene   UCSC   Ensembl
Aliases FSHR1, FSHRO, LGR1, ODG1
Gene name follicle stimulating hormone receptor
Alternate names follicle-stimulating hormone receptor, FSH receptor, follitropin receptor,
Gene location 2p16.3 (49154526: 48953160)     Exons: 14     NC_000002.12
Gene summary(Entrez) The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
OMIM 136435

SNPs

 rs1126714

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000664.2   g.49017528T>G
NC_000002.11   g.49244667T>G
NC_000002.12   g.49017528T>G
NG_008146.1   g.141964A>C
NM_000145.3   c.335A>C
NM_181446.2   c.335A>C
NP_000136.2   p.Asn112Thr
NP_852111.2   p.Asn112Thr
XP_005264299.1   p.Asn112Thr
XP_011531035.1   p.Asn112Thr
XP_011531042.1   p.Asn112Thr
rs6165

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/C/G   Mutation type: snp

CM000664.2   g.48963902C>G
CM000664.2   g.48963902C>T
NC_000002.11   g.49191041C>T
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NG_008146.1   g.195590G>A
NG_008146.1   g.195590G>C
NM_000145.3   c.919G>A
NM_000145.3   c.919G>C
NM_181446.2   c.841G>A
NM_181446.2   c.841G>C
NP_000136.2   p.Ala307Pro
NP_000136.2   p.Ala307Thr
NP_852111.2   p.Ala281Pro
NP_852111.2   p.Ala281Thr
XP_005264299.1   p.Ala245Thr
XP_005264300.1   p.Ala43Thr
XP_011531035.1   p.Ala341Pro
XP_011531035.1   p.Ala341Thr
XP_011531036.1   p.Ala230Pro
XP_011531036.1   p.Ala230Thr
XP_011531037.1   p.Ala43Pro
XP_011531037.1   p.Ala43Thr
XP_011531038.1   p.Ala43Pro
XP_011531038.1   p.Ala43Thr
Clinical Significance: drug-response

rs6166

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000664.2   g.48962782C>T
NC_000002.11   g.49189921C>T
NC_000002.12   g.48962782C>T
NG_008146.1   g.196710G>A
NM_000145.3   c.2039G>A
NM_181446.2   c.1961G>A
NP_000136.2   p.Ser680Asn
NP_852111.2   p.Ser654Asn
XP_005264299.1   p.Ser618Asn
XP_005264300.1   p.Ser416Asn
XP_011531035.1   p.Ser714Asn
XP_011531036.1   p.Ser603Asn
XP_011531037.1   p.Ser416Asn
XP_011531038.1   p.Ser416Asn
Clinical Significance: drug-response

rs6167

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000664.2   g.48963249G>C
CM000664.2   g.48963249G>T
NC_000002.11   g.49190388G>C
NC_000002.11   g.49190388G>T
NC_000002.12   g.48963249G>C
NC_000002.12   g.48963249G>T
NG_008146.1   g.196243C>A
NG_008146.1   g.196243C>G
NM_000145.3   c.1572C>A
NM_000145.3   c.1572C>G
NM_181446.2   c.1494C>A
NM_181446.2   c.1494C>G
NP_000136.2   p.Ser524Arg
NP_852111.2   p.Ser498Arg
XP_005264299.1   p.Ser462Arg
XP_005264300.1   p.Ser260Arg
XP_011531035.1   p.Ser558Arg
XP_011531036.1   p.Ser447Arg
XP_011531037.1   p.Ser260Arg
XP_011531038.1   p.Ser260Arg

Protein Summary
Protein general information P23945  

Name: Follicle stimulating hormone receptor (FSH R) (Follitropin receptor)

Length: 695  Mass: 78,265

Tissue specificity: Sertoli cells and ovarian granulosa cells.

Sequence MALLLVSLLAFLSLGSGCHHRICHCSNRVFLCQESKVTEIPSDLPRNAIELRFVLTKLRVIQKGAFSGFGDLEKI
EISQNDVLEVIEADVFSNLPKLHEIRIEKANNLLYINPEAFQNLPNLQYLLISNTGIKHLPDVHKIHSLQKVLLD
IQDNINIHTIERNSFVGLSFESVILWLNKNGIQEIHNCAFNGTQLDELNLSDNNNLEELPNDVFHGASGPVILDI
SRTRIHSLPSYGLENLKKLRARSTYNLKKLPTLEKLVALMEASLTYPSHCCAFANWRRQISELHPICNKSILRQE
VDYMTQARGQRSSLAEDNESSYSRGFDMTYTEFDYDLCNEVVDVTCSPKPDAFNPCEDIMGYNILRVLIWFISIL
AITGNIIVLVILTTSQYKLTVPRFLMCNLAFADLCIGIYLLLIASVDIHTKSQYHNYAIDWQTGAGCDAAGFFTV
FASELSVYTLTAITLERWHTITHAMQLDCKVQLRHAASVMVMGWIFAFAAALFPIFGISSYMKVSICLPMDIDSP
LSQLYVMSLLVLNVLAFVVICGCYIHIYLTVRNPNIVSSSSDTRIAKRMAMLIFTDFLCMAPISFFAISASLKVP
LITVSKAKILLVLFHPINSCANPFLYAIFTKNFRRDFFILLSKCGCYEMQAQIYRTETSSTVHNTHPRNGHCSSA
PRVTNGSTYILVPLSHLAQN
Structural information
Protein Domains
 LRRNT. (18-46)
Interpro:  IPR002272 IPR024635 IPR000276 IPR017452 IPR002131 IPR032675 IPR026906 IPR000372 IPR034298
Prosite:   PS00237 PS50262

Pfam:  		 PF00001 PF12369 PF13306 PF01462

PDB:  		 1XUN 1XWD 4AY9 4MQW
PDBsum:   1XUN 1XWD 4AY9 4MQW

DIP:  		 35605
MINT:   1177926
STRING:   ENSP00000384708;
Other Databases GeneCards:  FSHR;  Malacards:  FSHR

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001545 primary ovarian follicle
growth
 IBA biological_process
GO:0004963 follicle-stimulating horm
one receptor activity
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 IBA cellular_component
GO:0007186 G-protein coupled recepto
r signaling pathway
 TAS biological_process
GO:0007189 adenylate cyclase-activat
ing G-protein coupled rec
eptor signaling pathway
 IBA biological_process
GO:0007190 activation of adenylate c
yclase activity
 IBA biological_process
GO:0007283 spermatogenesis
 TAS biological_process
GO:0007292 female gamete generation
 TAS biological_process
GO:0008406 gonad development
 TAS biological_process
GO:0008528 G-protein coupled peptide
receptor activity
 IBA molecular_function
GO:0008584 male gonad development
 IEP biological_process
GO:0008585 female gonad development
 TAS biological_process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological_process
GO:0010738 regulation of protein kin
ase A signaling
 IMP biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
 IMP biological_process
GO:0016021 integral component of mem
brane
 TAS cellular_component
GO:0042699 follicle-stimulating horm
one signaling pathway
 IEA biological_process
GO:0045670 regulation of osteoclast
differentiation
 IBA biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IDA biological_process
GO:0001545 primary ovarian follicle
growth
 IBA biological_process
GO:0004871 signal transducer activit
y
 IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
 IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
 IEA molecular_function
GO:0004963 follicle-stimulating horm
one receptor activity
 IEA molecular_function
GO:0004963 follicle-stimulating horm
one receptor activity
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 IBA cellular_component
GO:0007165 signal transduction
 IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 TAS biological_process
GO:0007189 adenylate cyclase-activat
ing G-protein coupled rec
eptor signaling pathway
 IBA biological_process
GO:0007190 activation of adenylate c
yclase activity
 IBA biological_process
GO:0007283 spermatogenesis
 TAS biological_process
GO:0007292 female gamete generation
 TAS biological_process
GO:0008406 gonad development
 TAS biological_process
GO:0008528 G-protein coupled peptide
receptor activity
 IBA molecular_function
GO:0008584 male gonad development
 IEP biological_process
GO:0008585 female gonad development
 TAS biological_process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological_process
GO:0010738 regulation of protein kin
ase A signaling
 IMP biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
 IMP biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 TAS cellular_component
GO:0016500 protein-hormone receptor
activity
 IEA molecular_function
GO:0042699 follicle-stimulating horm
one signaling pathway
 IEA biological_process
GO:0045670 regulation of osteoclast
differentiation
 IBA biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IDA biological_process
GO:0001545 primary ovarian follicle
growth
 IBA biological_process
GO:0004963 follicle-stimulating horm
one receptor activity
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 IBA cellular_component
GO:0007186 G-protein coupled recepto
r signaling pathway
 TAS biological_process
GO:0007189 adenylate cyclase-activat
ing G-protein coupled rec
eptor signaling pathway
 IBA biological_process
GO:0007190 activation of adenylate c
yclase activity
 IBA biological_process
GO:0007283 spermatogenesis
 TAS biological_process
GO:0007292 female gamete generation
 TAS biological_process
GO:0008406 gonad development
 TAS biological_process
GO:0008528 G-protein coupled peptide
receptor activity
 IBA molecular_function
GO:0008584 male gonad development
 IEP biological_process
GO:0008585 female gonad development
 TAS biological_process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological_process
GO:0010738 regulation of protein kin
ase A signaling
 IMP biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
 IMP biological_process
GO:0016021 integral component of mem
brane
 TAS cellular_component
GO:0045670 regulation of osteoclast
differentiation
 IBA biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IDA biological_process

KEGG pathways

hsa04080  Neuroactive ligand-receptor interaction
hsa04024  cAMP signaling pathway
hsa04913  Ovarian steroidogenesis

Diseases

Associated diseases References
46 XX gonadal dysgenesis PMID: 9696229
Alzheimer's disease PMID: 19141999
Anovulation PMID: 14556822
Asthenozoospermia PMID: 19032691
Azoospermia PMID: 16213843
Cancer PMID: 19458022
Chronic anovulation PMID: 25179311
Congenital adrenal hyperplasia KEGG: H00216
Cryptorchidism PMID: 2868600
Endometriosis PMID: 21474127
Erectile dysfunction PMID: 20932654
Female infertility PMID: 24167601
Hyperandrogenism PMID: 19403562
Hyperandrogenism PMID: 18697861
Hypergonadotropic hypogonadism PMID: 12571157
Hypertension PMID: 16864747
Impaired spermatogenesis PMID: 9020851
Male infertility PMID: 16213843
Mayer-Rokitansky-Kuster-Hauser syndrome PMID: 19101883
Migraine disorders PMID: 19093296
Non-obstructive azoospermia (NOA) PMID: 22421444
Normogonadotropic anovulatory infertility PMID: 14556822
Oligoasthenoteratozoospermia PMID: 22414334
Oligozoospermia PMID: 21334319
Ovarian dysgenesis OMIM: 136435
Ovarian hyperstimulation syndrome (OHSS) PMID: 3020737
Polycystic ovary syndrome (PCOS) PMID: 18697861
Premature ovarian failure ( POF) PMID: 25954833
Premature ovarian failure ( POF) PMID: 17826728
Primary amenorrhea PMID: 12915623
Endometriosis INFBASE25502184
Poor ovarian response INFBASE21474127
Semen quality PMID: 23013557
Spermatogenetic defects PMID: 8636335
Systemic lupus erythematosus PMID: 19165918
Unexplained infertility PMID: 9314906
XX gonadal dysgenesis PMID: 17826728

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25502184 Endometrio
sis
 SS at the position 680, AA at the position 307 Turkish
 200 (100 patien
ts with endomet
riosis, 100 con
trols)
Show abstract
23139742 Endometrio
sis
 FSHR (rs6165 (genotype GG+GA, 307(Ala/Ala)+307(Ala/Thr)) of FSHR, rs 6166 (genotype GG+GA, 680(Ser/Asn)+680(Ser/Ser))), HSD17B3 (rs2066479 (genotype AA+AG, 289(Ser/Ser)+289(Ser/Gly))), CYP19 (rs700519 (genotype TT+TC, 264(Cys/Cys)+264(Cys/Arg))) Taiwane
se Chin
ese
 637 (300 patien
ts with endrome
triosis)
 FSHR
HSD17B3
CYP19
 Show abstract
20817169 Endometrio
sis
 A/G polymorphism of FSH receptor gene (Asn680Ser) Taiwane
se Chin
ese
 637 (300 patien
ts with endomet
riosis, 337 con
trols without e
ndometriosis)
 FSHR
 Show abstract
21474127 Endometrio
sis
117 (35 control
s (no ovarian f
actor, NOF), 28
poor responder
s (PR), 32 pati
ents with endom
etriosis (EM),
and 22 patients
with polycysti
c ovary syndrom
e (PCOS))
 Female infertility FSHR
PAPP
and Cyp19A1
 Show abstract